SLC25A15
Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. Defects in SLC25A15 are the cause of hyperornithinemia- hyperammonemia-homocitrullinuria syndrome (HHH syndrome). It is an autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle. Belongs to the mitochondrial carrier family. Note: This description may include information from UniProtKB.